日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Multi-omic profiling provides insights into the heterogeneity, microenvironmental features, and biomarker landscape of small-cell lung cancer

多组学分析能够深入了解小细胞肺癌的异质性、微环境特征和生物标志物图谱。

Xie, Mingchao; Vuko, Miljenka; Saran, Shashank; Liu, Siyu; Chambers, Andrew G; Baakza, Hana; Angell, Helen K; Ng, Felicia; Gay, Carl M; Cardnell, Robert J; Segerer, Felix J; Andoni, Alma; Rodriguez-Canales, Jaime; Waring, Paul M; Schick, Markus; Barrett, J Carl; Byers, Lauren A; Fabbri, Giulia

What is the Next Step after an Electrodiagnostic Study in Children with Polyneuropathies? Rationale for Laboratory and Other Diagnostic Tests

儿童多发性神经病患者进行电诊断检查后的下一步是什么?进行实验室检查和其他诊断性检查的理由

Babaee, Marzieh; Urtizberea, J Andoni; Fatehi, Farzad; Rayegani, Seyed Mansoor

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

黎巴嫩20年临床和遗传神经肌肉队列分析:一项国际合作

Megarbane, Andre; Bizzari, Sami; Deepthi, Asha; Sabbagh, Sandra; Mansour, Hicham; Chouery, Eliane; Hmaimess, Ghassan; Jabbour, Rosette; Mehawej, Cybel; Alame, Saada; Hani, Abeer; Hasbini, Dana; Ghanem, Ismat; Koussa, Salam; Al-Ali, Mahmoud Taleb; Obeid, Marc; Talea, Diana Bou; Lefranc, Gerard; Lévy, Nicolas; Leturcq, France; El Hayek, Stephany; Delague, Valérie; Urtizberea, J Andoni

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

智利人群肢带肌无力患者的基因特征

Mathieu Cerino, Patricio González-Hormazábal, Mario Abaji, Sebastien Courrier, Francesca Puppo, Yves Mathieu, Alejandra Trangulao, Nicholas Earle, Claudia Castiglioni, Jorge Díaz, Mario Campero, Ricardo Hughes, Carmen Vargas, Rocío Cortés, Karin Kleinsteuber, Ignacio Acosta, J Andoni Urtizberea, Nic

The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series

SEPN1相关肌病的临床、组织学和基因型谱:病例系列研究

Villar-Quiles, Rocio N; von der Hagen, Maja; Métay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lütschg, Jürg; Malfatti, Edoardo; Mayer, Michèle; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B; Fardeau, Michel; Bönnemann, Carsten G; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

STAC3 变异会导致具有明显畸形特征和恶性高热易感性的先天性肌病

Irina T Zaharieva, Anna Sarkozy, Pinki Munot, Adnan Manzur, Gina O'Grady, John Rendu, Eduardo Malfatti, Helge Amthor, Laurent Servais, J Andoni Urtizberea, Osorio Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A Reghan Foley, Chris Holmes, Glyn Williams, Mur

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

外显子组测序揭示核黄素转运蛋白突变是导致运动神经元疾病的原因

Janel O Johnson, J Raphael Gibbs, Andre Megarbane, J Andoni Urtizberea, Dena G Hernandez, A Reghan Foley, Sampath Arepalli, Amelie Pandraud, Javier Simón-Sánchez, Peter Clayton, Mary M Reilly, Francesco Muntoni, Yevgeniya Abramzon, Henry Houlden, Andrew B Singleton

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

先天性肌营养不良症1D型(MDC1D)是由LARGE基因第10个内含子中较大的基因内插入/缺失引起的。

Clarke, Nigel F; Maugenre, Svetlana; Vandebrouck, Aurélie; Urtizberea, J Andoni; Willer, Tobias; Peat, Rachel A; Gray, Françoise; Bouchet, Céline; Manya, Hiroshi; Vuillaumier-Barrot, Sandrine; Endo, Tamao; Chouery, Eliane; Campbell, Kevin P; Mégarbané, André; Guicheney, Pascale

A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

硒蛋白N mRNA 3'非翻译区基序中的单个纯合点突变会导致SEPN1相关肌病。

Allamand, Valérie; Richard, Pascale; Lescure, Alain; Ledeuil, Céline; Desjardin, Delphine; Petit, Nathalie; Gartioux, Corine; Ferreiro, Ana; Krol, Alain; Pellegrini, Nadine; Urtizberea, J Andoni; Guicheney, Pascale